Canonical Allele Identifier: CA048477
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs377537294
ExAC: 14:23901015 A / G
gnomAD v2: 14-23901015-A-G
MyVariant Identifiers: chr14:g.23901015A>G (hg19) chr14:g.23431806A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431806A>G , CM000676.2:g.23431806A>G GRCh38
NC_000014.8:g.23901015A>G , CM000676.1:g.23901015A>G GRCh37
NC_000014.7:g.22970855A>G NCBI36
NG_007884.1:g.8856T>C , LRG_384:g.8856T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.594T>C MANE Select ENSP00000347507.3:p.Ile198=
ENST00000355349.3:c.594T>C ENSP00000347507.3:p.Ile198=
NM_000257.3:c.594T>C NP_000248.2:p.Ile198=
XR_245686.3:n.700T>C
XM_017021340.1:c.594T>C XP_016876829.1:p.Ile198=
NM_000257.4:c.594T>C MANE Select NP_000248.2:p.Ile198=
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